Files and links (1)
Published, Version of Record (VoR)Open Access (License Unspecified), Open
Journal article
Cornelia de Lange syndrome in diverse populations
American journal of medical genetics. Part A, v 179(2), pp 150-158
Feb 2019
PMCID: PMC6367950
PMID: 30614194
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
Metrics
Details
- Title
- Cornelia de Lange syndrome in diverse populations
- Creators
- Leah Dowsett - University of PennsylvaniaAntonio R Porras - Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of ColumbiaPaul Kruszka - National Institutes of HealthBrandon Davis - National Institutes of HealthTommy Hu - National Institutes of HealthEngela Honey - University of PretoriaEben Badoe - University of GhanaMeow-Keong Thong - University of MalayaEyby Leon - Division of Genetics and Metabolism, Children's National Health System, Washington, District of ColumbiaKatta M Girisha - Manipal Academy of Higher EducationAnju Shukla - Manipal Academy of Higher EducationShalini S Nayak - Manipal Academy of Higher EducationVorasuk Shotelersuk - Chulalongkorn UniversityAndre Megarbane - Research Institut, Institut Jérôme Lejeune, Paris, FranceShubha Phadke - Sanjay Gandhi Post Graduate Institute of Medical SciencesNirmala D Sirisena - University of ColomboVajira H W Dissanayake - University of ColomboCarlos R Ferreira - Division of Genetics and Metabolism, Children's National Health System, Washington, District of ColumbiaMonisha S Kisling - Division of Genetics and Metabolism, Children's National Health System, Washington, District of ColumbiaPranoot Tanpaiboon - Division of Genetics and Metabolism, Children's National Health System, Washington, District of ColumbiaAnnette Uwineza - University of RwandaLeon Mutesa - University of RwandaCedrik Tekendo-Ngongang - University of Cape TownAmbroise Wonkam - University of Cape TownKaren Fieggen - University of Cape TownLeticia Cassimiro Batista - Universidade Estadual Paulista (Unesp)Danilo Moretti-Ferreira - Universidade Estadual Paulista (Unesp)Roger E Stevenson - Greenwood Genetic CenterEloise J Prijoles - Greenwood Genetic CenterDavid Everman - Greenwood Genetic CenterKate Clarkson - Greenwood Genetic CenterJessica Worthington - Greenwood Genetic CenterVirginia Kimonis - University of California, IrvineFuki Hisama - University of WashingtonCarol Crowe - Case Western Reserve UniversityPaul Wong - Rush UniversityKisha Johnson - Rush University Medical CenterRobin D Clark - Loma Linda UniversityLynne Bird - University of California, San DiegoDiane Masser-Frye - Boston Children's HospitalMarie McDonald - Durham UniversityPatrick Willems - GENDIA, GENetic DIAgnostic Network, Antwerp, BelgiumElizabeth Roeder - Baylor College of MedicineSulgana Saitta - Cedars-Sinai Medical CenterKwame Anyane-Yeoba - Columbia UniversityLaurie Demmer - Carolinas Medical CenterNaoki Hamajima - Department of Pediatrics, Nagoya City Jouhoku Hospital, Nagoya, JapanZornitza Stark - Victorian Clinical Genetics ServicesGreta Gillies - Murdoch Children's Research InstituteLouanne Hudgins - Stanford UniversityUsha Dave - Haffkine InstituteStavit Shalev - Emek Medical CenterVictoria Siu - London Health Sciences CentreAnn Ades - University of PennsylvaniaHolly Dubbs - Children's Hospital of PhiladelphiaSarah Raible - Children's Hospital of PhiladelphiaManinder Kaur - Children's Hospital of PhiladelphiaEmanuela Salzano - Children's Hospital of PhiladelphiaLaird Jackson - Drexel UniversityMatthew Deardorff - University of PennsylvaniaAntonie Kline - Greater Baltimore Medical CenterMarshall Summar - Division of Genetics and Metabolism, Children's National Health System, Washington, District of ColumbiaMaximilian Muenke - National Institutes of HealthMarius George Linguraru - Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of ColumbiaIan D Krantz - University of Pennsylvania
- Publication Details
- American journal of medical genetics. Part A, v 179(2), pp 150-158
- Publisher
- Wiley
- Grant note
- Z99 HG999999 / Intramural NIH HHS Thailand Research Fund U24 HL135600 / NHLBI NIH HHS CdLS Center Endowed Funds, Children's Hospital of Philadelphia Government of Abu Dhabi P01 HD052860 / NICHD NIH HHS PKS Italia U01 HG009716 / NHGRI NIH HHS T32 GM008638 / NIGMS NIH HHS Chulalongkorn Academic Advancement Into Its 2nd Century Project Division of Intramural Research, National Human Genome Research, NIH PKSKids USA
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000459032300003
- Scopus ID
- 2-s2.0-85059567502
- Other Identifier
- 991019350676804721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity